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• W1970560691 abstract "Mutations in the dystrophin gene result in both Duchenne and Becker muscular dystrophies (DMD and BMD). Approximately two-thirds of the affected patients have large deletions or duplications. Using the multiplex polymerase chain reaction and Southern blotting techniques, the detection of these larger mutations is relatively straightforward. Detection of the point mutations in the remaining one-third of the patients has been challenging, mainly due to the large gene size and lack of hotspots or prevalent mutations. However, with the addition of some of the newer molecular screening methods, it is becoming more feasible for clinical laboratories to test for point mutations in the larger genes like dystrophin. Here we review the clinical features, describe the mutation distributions, evaluate current molecular strategies, and illustrate how the genetic findings have impacted the current clinical diagnostics of Duchenne and Becker muscular dystrophies." @default.
• W1970560691 created "2016-06-24" @default.
• W1970560691 creator A5034469184 @default.
• W1970560691 creator A5083997863 @default.
• W1970560691 date "2005-08-01" @default.
• W1970560691 modified "2023-10-14" @default.
• W1970560691 title "Experience and Strategy for the Molecular Testing of Duchenne Muscular Dystrophy" @default.
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• W1970560691 doi "https://doi.org/10.1016/s1525-1578(10)60560-0" @default.
• W1970560691 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/1867542" @default.
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• W1970560691 hasPublicationYear "2005" @default.
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